A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610954



Internal ID6997870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138186884..138196033hg38UCSC Ensembl
Innerchr6:138186884..138196033hg38UCSC Ensembl
Outerchr6:138186744..138196181hg38UCSC Ensembl
chr6:138508021..138517170hg19UCSC Ensembl
Innerchr6:138508021..138517170hg19UCSC Ensembl
Outerchr6:138507881..138517318hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12565652, essv12565650, essv12565651
SamplesNA19819, HG03117, NA19818
Known GenesKIAA1244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610954
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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